Редактирование: DSC2

Desmocollin-2 precursor (Cadherin family member 2) (Desmocollin-3) (Desmosomal glycoprotein II) (Desmosomal glycoprotein III) [CDHF2] [DSC3]

==Publications==

{{medline-entry
|title=Age-dependent clinical and genetic characteristics in Japanese patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia.
|pubmed-url=https://pubmed.ncbi.nlm.nih.gov/23514727
|abstract= Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a heart muscle disease caused by desmosomal gene mutations, and presents as ventricular tachycardia and sudden cardiac death. Although the mean age at onset or diagnosis of ARVC/D are reported to be around the 30-40s, the age-dependent clinical and genetic differences remain unknown.  A total of 35 consecutive Japanese probands (23 male) who were clinically diagnosed with ARVC/D were enrolled in the present study, and genetic analysis of [[PKP2]], [[DSP]], [[DSG2]], and [[DSC2]] was done. The mean age at the first symptom and at diagnosis was 38.6±14.8 years and 40.5±17.7 years, respectively. Probands in whom the onset was cardiopulmonary arrest were significantly younger (22.3±15.3 years) than those with arrhythmia (41.1±13.2 years) or congestive heart failure (45.7±8.5 years). On genetic screening, 19 mutation carriers were identified. Although there was no age dependence for each gene mutation carrier, carriers with [[PKP2]] premature stop codon developed the disease at a significantly younger age than other mutation carriers.  The initial clinical manifestations in some young probands were very severe, and [[PKP2]] mutations with a premature stop codon would be associated with disease onset at a younger age. 
|mesh-terms=* Adolescent
* Adult
* Age Factors
* Aged
* Aging
* Arrhythmogenic Right Ventricular Dysplasia
* Asian Continental Ancestry Group
* Desmocollins
* Desmoglein 2
* Desmoplakins
* Female
* Humans
* Japan
* Male
* Middle Aged
* Mutation
* Plakophilins

|full-text-url=https://sci-hub.do/10.1253/circj.cj-12-1446
}}
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